B淋巴细胞激酶基因突变致青少年发病的成人糖尿病11型一家系

对2018年8月南京医科大学附属儿童医院诊治的1例B淋巴细胞激酶( BLK)基因突变致青少年发病的成人糖尿病11型( MODY11)患儿的临床资料进行回顾性分析，对其家系进行糖尿病调查。先证者，男，13岁，因"发现高血糖0.5年"入院，病初当地医院诊断为1型糖尿病。查体：身高169.2 cm，体质量65.5 ...

Maturity-onset diabetes of the young 11 caused by B lymphocyte kinase mutation in a family

The clinical data of a patient with maturity-onset diabetes of the young 11(MODY11)caused by B lymphocyte kinase(BLK)gene mutations in Children′s Hospital Affiliated to Nanjing Medical University in August 2018 were retrospectively analyzed.The diabetes mellitus epidemiologic investigation was carried out on the patient′s family.The 13-year-old boy was diagnosed with type 1 diabetes at the local hospital 6 months ago.Physical examination showed that he was 65.5 kg in weight,169.2 cm in height and 22.9 kg/m2 in the body mass index.He was overweight without acanthosis nigricans.Laboratory measurements revealed fasting blood glucose 11.79 mmol/L,fasting insulin 18.05 mmol/L,and fasting C-peptide 1.12 mmol/L.The glycosylated hemoglobin was 12.0%,while the islet antibodies were all negative.Among 4 consecutive generations of this family,11 members presented with diabetes,8 cases of who were treated with insulin and 3 cases with oral hypoglycemic drugs.The whole exome sequencing identified a heterozygous mutation in exon 9 of BLK(c.809C>T)in this patient and his mother.This mutation caused the amino acid change p.T270M(threonine>methionine).Many cases of MODY are misdiagnosed as either type 1 diabetes or type 2 diabetes.MODY11 is rare,mostly characterized by overweight or obesity,insufficient serum insulin secretion and commonly insulin dependence.